V156G (p.Val156Gly) variant of UBE3A (Ubiquitin-protein ligase E3A)
V156G (p.Val156Gly) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature.
V156G (p.Val156Gly) variant details
- p.Val156Gly
- rs587782915
- ClinGen CA333422
- ClinVar RCV000144335
- ClinVar RCV004791276
- Uncertain significance
- not provided; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.96
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided; Angelman syndrome)
- EBI: Benign
- UniProt: Benign
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Angelman Syndrome. (PMID 20301323)